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ASXL-Related Disorders Natural History Study

NCT ID: NCT03303716

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-09-20

Study Completion Date

2037-09-30

Brief Summary

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A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).

Detailed Description

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Study participants will be asked to complete a series of brief surveys over time about their medical condition. The researchers will also attain primary medical records.The registry is based at UCLA as the IRB of record with collaborating sites at Boston Children's Hospital, Cincinnati Children's Hospital, and Duke University in a partnership with the Bohring-Opitz Syndrome (BOS) Foundation and ASXL-Rare Research Endowment (ARRE). The BOS Foundation and ARRE are non-profit organizations run by families of patients with ASXL-related disorders that are focused on supporting research. The data is co-managed by the researchers and the family groups. Aggregate data from the Registry will be shared with the participants as well as used for publication. The Registry is HIPPA compliant and follows all the IRB requirements regarding securing and managing patient data.

Conditions

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Bohring-Opitz Syndrome ASXL1 Gene Mutation Shashi-Pena Syndrome ASXL2 Gene Mutation Bainbridge-Ropers Syndrome ASXL3 Gene Mutation

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria

* No clinical or molecular diagnosis of an ASXL related disorder
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role collaborator

Children's Hospital Medical Center, Cincinnati

OTHER

Sponsor Role collaborator

Duke University

OTHER

Sponsor Role collaborator

University of California, Los Angeles

OTHER

Sponsor Role lead

Responsible Party

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Bianca E. Russell, MD

Bianca Russell, MD

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Wen-Hann Tan, BMBS

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Loren Pena, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital Medical Center, Cincinnati

Vandana Shashi, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Duke University

Bianca Russell, MD

Role: PRINCIPAL_INVESTIGATOR

University of California, Los Angeles

Locations

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University of California, Los Angeles

Los Angeles, California, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Bianca Russell, MD

Role: CONTACT

Phone: (310) 206-6581

Email: [email protected]

Facility Contacts

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Bianca Russell, MD

Role: primary

Other Identifiers

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CIN_ASXLHistory_001

Identifier Type: -

Identifier Source: org_study_id